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    IQGAP2 IQ motif containing GTPase activating protein 2 [ Homo sapiens (human) ]

    Gene ID: 10788, updated on 7-Dec-2018

    Summary

    Official Symbol
    IQGAP2provided by HGNC
    Official Full Name
    IQ motif containing GTPase activating protein 2provided by HGNC
    Primary source
    HGNC:HGNC:6111
    See related
    Ensembl:ENSG00000145703 MIM:605401
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a member of the IQGAP family. The encoded protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. This protein interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. It also acts as a tumor suppressor and has been found to play a role in regulating innate antiviral responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]
    Expression
    Broad expression in liver (RPKM 36.3), duodenum (RPKM 28.2) and 21 other tissues See more
    Orthologs

    Genomic context

    See IQGAP2 in Genome Data Viewer
    Location:
    5q13.3
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (76403255..76708132)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (75699131..76003957)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene synaptic vesicle glycoprotein 2C Neighboring gene GATA motif-containing MPRA enhancer 83 Neighboring gene small nuclear ribonucleoprotein polypeptide C pseudogene 2 Neighboring gene sulfiredoxin 1 pseudogene Neighboring gene uncharacterized LOC101929109 Neighboring gene coagulation factor II thrombin receptor like 2 Neighboring gene non-protein coding RNA, upstream of F2R/PAR1 Neighboring gene coagulation factor II thrombin receptor

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide association study for age-related hearing impairment in the Saami.
    NHGRI GWA Catalog
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • G13 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      G13 Signaling Pathway, organism-specific biosystemThe G13 subunit is an alpha unit of heterotrimeric G proteins that regulates cell processes through the use of guanine nucleotide exchange factors. G13 regulates actin cytoskeletal remodeling in cell...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
      RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
    • RHO GTPases activate IQGAPs, organism-specific biosystem (from REACTOME)
      RHO GTPases activate IQGAPs, organism-specific biosystemIQGAPs constitute a family of scaffolding proteins characterized by a calponin homology (CH) domain, a polyproline binding region (WW domain), a tandem of four IQ (isoleucine and glutamine-rich) repe...
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Arp2/3 complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    GTPase inhibitor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Rac GTPase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Rho GTPase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calmodulin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    phosphatidylinositol-3,4,5-trisphosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    Arp2/3 complex-mediated actin nucleation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    thrombin-activated receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    filopodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microvillus IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    secretory granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    ras GTPase-activating-like protein IQGAP2

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_053128.1 RefSeqGene

      Range
      5001..309878
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001285460.1NP_001272389.1  ras GTPase-activating-like protein IQGAP2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon and initiates translation from an in-frame downstream start codon compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AB208856, AK302510, BQ002800, U51903
      Consensus CDS
      CCDS75262.1
      UniProtKB/Swiss-Prot
      Q13576
      UniProtKB/TrEMBL
      B7Z7U6, Q59HA3
      Related
      ENSP00000442313.2, ENST00000379730.7
      Conserved Domains (5) summary
      smart00015
      Location:639660
      IQ; Calmodulin-binding motif
      smart00323
      Location:8551184
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00014
      Location:1106
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      pfam03836
      Location:13171448
      RasGAP_C; RasGAP C-terminus
      cl02569
      Location:8661224
      RasGAP; Ras GTPase Activating Domain
    2. NM_001285461.1NP_001272390.1  ras GTPase-activating-like protein IQGAP2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has several differences compared to variant 1, including an alternate 5' terminal exon, use of an alternate translation initiation codon and lacking an in-frame coding exon. The resulting shorter isoform (3) has a novel N-terminus and lacks an internal protein segment compared to isoform 1.
      Source sequence(s)
      AB208856, AK302510, AY351902, BQ002800, DB071610, U51903
      Consensus CDS
      CCDS68897.1
      UniProtKB/Swiss-Prot
      Q13576
      UniProtKB/TrEMBL
      B7Z7U6, Q59HA3
      Related
      ENSP00000379535.3, ENST00000396234.7
      Conserved Domains (3) summary
      cd05131
      Location:412770
      RasGAP_IQGAP2; Ras-GTPase Activating Domain of IQ motif containing GTPase activating protein 2
      smart00323
      Location:401730
      RasGAP; GTPase-activator protein for Ras-like GTPases
      pfam03836
      Location:863994
      RasGAP_C; RasGAP C-terminus
    3. NM_001285462.1NP_001272391.1  ras GTPase-activating-like protein IQGAP2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has several differences compared to variant 1, including an alternate 5' terminal exon, use of an alternate translation initiation codon and lacking an in-frame coding exon. The resulting shorter isoform (4) has a novel N-terminus and lacks an internal protein segment compared to isoform 1.
      Source sequence(s)
      AB208856, AK302599, AK303054, BQ002800
      Consensus CDS
      CCDS68898.1
      UniProtKB/Swiss-Prot
      Q13576
      UniProtKB/TrEMBL
      B7Z7X2, Q59HA3
      Related
      ENSP00000426027.1, ENST00000502745.5
      Conserved Domains (3) summary
      cd05131
      Location:412770
      RasGAP_IQGAP2; Ras-GTPase Activating Domain of IQ motif containing GTPase activating protein 2
      smart00323
      Location:401730
      RasGAP; GTPase-activator protein for Ras-like GTPases
      pfam03836
      Location:863994
      RasGAP_C; RasGAP C-terminus
    4. NM_006633.4NP_006624.2  ras GTPase-activating-like protein IQGAP2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB208856, AK291066, AK302510, BQ002800, U51903
      Consensus CDS
      CCDS34188.1
      UniProtKB/Swiss-Prot
      Q13576
      UniProtKB/TrEMBL
      B7Z7U6, Q59HA3
      Related
      ENSP00000274364.6, ENST00000274364.10
      Conserved Domains (5) summary
      smart00015
      Location:689710
      IQ; Calmodulin-binding motif
      smart00323
      Location:9051234
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00014
      Location:42156
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      pfam03836
      Location:13671498
      RasGAP_C; RasGAP C-terminus
      cl02569
      Location:9161274
      RasGAP; Ras GTPase Activating Domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

      Range
      76403255..76708132
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008960.1XP_016864449.1  ras GTPase-activating-like protein IQGAP2 isoform X3

    2. XM_024454337.1XP_024310105.1  ras GTPase-activating-like protein IQGAP2 isoform X2

      Conserved Domains (3) summary
      smart00015
      Location:662683
      IQ; Calmodulin-binding motif
      cd05131
      Location:8891247
      RasGAP_IQGAP2; Ras-GTPase Activating Domain of IQ motif containing GTPase activating protein 2
      cl27227
      Location:7571548
      RasGAP_C; RasGAP C-terminus
    3. XM_005248410.3XP_005248467.1  ras GTPase-activating-like protein IQGAP2 isoform X2

      Conserved Domains (3) summary
      smart00015
      Location:662683
      IQ; Calmodulin-binding motif
      cd05131
      Location:8891247
      RasGAP_IQGAP2; Ras-GTPase Activating Domain of IQ motif containing GTPase activating protein 2
      cl27227
      Location:7571548
      RasGAP_C; RasGAP C-terminus
    4. XM_024454336.1XP_024310104.1  ras GTPase-activating-like protein IQGAP2 isoform X1

      Conserved Domains (3) summary
      smart00015
      Location:687708
      IQ; Calmodulin-binding motif
      cd05131
      Location:9141272
      RasGAP_IQGAP2; Ras-GTPase Activating Domain of IQ motif containing GTPase activating protein 2
      cl27227
      Location:7821573
      RasGAP_C; RasGAP C-terminus
    5. XM_011543108.2XP_011541410.1  ras GTPase-activating-like protein IQGAP2 isoform X5

      Conserved Domains (4) summary
      smart00015
      Location:242263
      IQ; Calmodulin-binding motif
      cd05131
      Location:469827
      RasGAP_IQGAP2; Ras-GTPase Activating Domain of IQ motif containing GTPase activating protein 2
      smart00323
      Location:458787
      RasGAP; GTPase-activator protein for Ras-like GTPases
      pfam03836
      Location:9201051
      RasGAP_C; RasGAP C-terminus
    6. XM_005248414.2XP_005248471.1  ras GTPase-activating-like protein IQGAP2 isoform X4

      Conserved Domains (4) summary
      smart00015
      Location:242263
      IQ; Calmodulin-binding motif
      cd05131
      Location:469827
      RasGAP_IQGAP2; Ras-GTPase Activating Domain of IQ motif containing GTPase activating protein 2
      smart00323
      Location:458787
      RasGAP; GTPase-activator protein for Ras-like GTPases
      pfam03836
      Location:9201051
      RasGAP_C; RasGAP C-terminus
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